A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 267-268, 2004.
Article
Dans Chinois
| WPRIM
| ID: wpr-328902
ABSTRACT
<p><b>OBJECTIVE</b>To study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients.</p><p><b>METHODS</b>Peripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis.</p><p><b>RESULTS</b>The karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case.</p><p><b>CONCLUSION</b>The cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Délétion de segment de chromosome
/
Protéines du plasma séminal
/
Chromosomes Y humains
/
Locus génétiques
/
Génétique
/
Infertilité masculine
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2004
Type:
Article
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